Canonical Allele Identifier: CA205843

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137097842T>G , CM000671.2:g.137097842T>G	GRCh38
NC_000009.11:g.139992294T>G , CM000671.1:g.139992294T>G	GRCh37
NC_000009.10:g.139112115T>G	NCBI36
NG_031978.1:g.15916T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*337T>G	ENSP00000483132.2:n.*337T>G
ENST00000475449.7:c.635T>G	ENSP00000448658.2:p.Val212Gly
ENST00000535144.6:c.635T>G	ENSP00000441398.3:p.Val212Gly
ENST00000542372.2:c.551T>G	ENSP00000444189.2:p.Val184Gly
ENST00000544448.6:c.635T>G	ENSP00000444966.2:p.Val212Gly
ENST00000545539.6:c.*540T>G	ENSP00000440314.2:n.*540T>G
ENST00000682117.1:c.635T>G	ENSP00000507328.1:p.Val212Gly
ENST00000682210.1:n.659T>G
ENST00000682212.1:c.635T>G	ENSP00000508217.1:p.Val212Gly
ENST00000682425.1:n.885T>G
ENST00000682881.1:c.635T>G	ENSP00000506762.1:p.Val212Gly
ENST00000683113.1:n.268T>G
ENST00000683135.1:c.635T>G	ENSP00000507130.1:p.Val212Gly
ENST00000683324.1:c.632T>G	ENSP00000507373.1:p.Val211Gly
ENST00000683355.1:c.635T>G	ENSP00000508045.1:p.Val212Gly
ENST00000683475.1:c.635T>G	ENSP00000507749.1:p.Val212Gly
ENST00000683979.1:c.*337T>G	ENSP00000507362.1:n.*337T>G
ENST00000683987.1:c.635T>G	ENSP00000507715.1:p.Val212Gly
ENST00000684138.1:c.*337T>G	ENSP00000506755.1:n.*337T>G
ENST00000684144.1:c.632T>G	ENSP00000508213.1:p.Val211Gly
ENST00000684229.1:n.678T>G
ENST00000684272.1:c.*540T>G	ENSP00000506776.1:n.*540T>G
ENST00000684297.1:c.635T>G	ENSP00000507160.1:p.Val212Gly
ENST00000684366.1:c.635T>G	ENSP00000507668.1:p.Val212Gly
ENST00000684645.1:n.655T>G
ENST00000684759.1:c.635T>G	ENSP00000507818.1:p.Val212Gly
ENST00000371589.9:c.635T>G MANE Select	ENSP00000360645.4:p.Val212Gly
ENST00000371587.8:c.685T>G	ENSP00000483132.1:n.685T>G
ENST00000371589.8:c.635T>G	ENSP00000360645.4:p.Val212Gly
ENST00000474902.5:n.281T>G
ENST00000535144.5:c.527T>G	ENSP00000441398.2:p.Val176Gly
ENST00000542372.1:c.468T>G
ENST00000544448.5:c.635T>G	ENSP00000444966.2:p.Val212Gly
NM_016219.4:c.635T>G	NP_057303.2:p.Val212Gly
NR_045720.1:n.708T>G
NR_045721.1:n.839T>G
XM_006716945.2:c.635T>G	XP_006717008.1:p.Val212Gly
XM_006716945.4:c.635T>G	XP_006717008.1:p.Val212Gly
XM_017014239.1:c.338T>G	XP_016869728.1:p.Val113Gly
XM_024447403.1:c.635T>G	XP_024303171.1:p.Val212Gly
XR_001746176.1:n.825T>G
NM_016219.5:c.635T>G MANE Select	NP_057303.2:p.Val212Gly
NR_045720.2:n.650T>G
NR_045721.2:n.781T>G